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Aliases for KLHL9 Gene

Aliases for KLHL9 Gene

  • Kelch Like Family Member 9 2 3 5
  • Kelch-Like 9 (Drosophila) 2
  • KIAA1354 4

External Ids for KLHL9 Gene

Previous GeneCards Identifiers for KLHL9 Gene

  • GC00U991232
  • GC09U900612
  • GC09M021322

Summaries for KLHL9 Gene

Entrez Gene Summary for KLHL9 Gene

  • This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

GeneCards Summary for KLHL9 Gene

KLHL9 (Kelch Like Family Member 9) is a Protein Coding gene. Diseases associated with KLHL9 include Klhl9-Related Early-Onset Distal Myopathy and Melanoma, Cutaneous Malignant 1. Among its related pathways are Innate Immune System and Aurora B signaling. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KLHL13.

UniProtKB/Swiss-Prot for KLHL9 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Additional gene information for KLHL9 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL9 Gene

Genomics for KLHL9 Gene

GeneHancer (GH) Regulatory Elements for KLHL9 Gene

Promoters and enhancers for KLHL9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I021334 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.3 342 1.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 ELK1 ZNF207 KLHL9 IFNA13 IFNA5 IFNA12P IFNA8 IFNWP2 IFNA20P
GH09I021333 Enhancer 0.2 ENCODE 550.8 +1.4 1433 0.2 KLHL9 IFNA13 IFNA5 IFNA12P IFNA8 IFNWP2 IFNA20P
GH09I020619 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.4 +713.0 713028 5.3 HDGF PKNOX1 ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF213 ZNF207 MLLT3 KLHL9 FOCAD IFNA20P RPL7AP48
GH09I021989 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.4 -654.8 -654751 1.2 ZBTB21 SUZ12 ZNF335 ZFHX2 GLIS2 ZNF366 PATZ1 ZSCAN5C ZNF600 KLF8 KLHL9 CDKN2A-AS1 UBA52P6 ENSG00000265194 MTAP CDKN2B CDKN2B-AS1 CDKN2A PIR47863 GC09M021977
GH09I022208 Enhancer 1 Ensembl ENCODE 20.9 -875.4 -875365 4.5 ESRRA JUN MAX MZF1 ZNF384 FEZF1 BATF RFX5 GATA3 POLR2A KLHL9 ENSG00000265194 ENSG00000224549 GC09M022195 ENSG00000236921
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL9 gene promoter:

Genomic Locations for KLHL9 Gene

Genomic Locations for KLHL9 Gene
chr9:21,329,671-21,335,430
(GRCh38/hg38)
Size:
5,760 bases
Orientation:
Minus strand
chr9:21,329,670-21,335,429
(GRCh37/hg19)

Genomic View for KLHL9 Gene

Genes around KLHL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL9 Gene

Proteins for KLHL9 Gene

  • Protein details for KLHL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2J3-KLHL9_HUMAN
    Recommended name:
    Kelch-like protein 9
    Protein Accession:
    Q9P2J3
    Secondary Accessions:
    • Q8TCQ2

    Protein attributes for KLHL9 Gene

    Size:
    617 amino acids
    Molecular mass:
    69429 Da
    Quaternary structure:
    • Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB.
    SequenceCaution:
    • Sequence=BAA92592.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHL9 Gene

Post-translational modifications for KLHL9 Gene

Other Protein References for KLHL9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL9 Gene

Domains & Families for KLHL9 Gene

Gene Families for KLHL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KLHL9 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL9: view

No data available for UniProtKB/Swiss-Prot for KLHL9 Gene

Function for KLHL9 Gene

Molecular function for KLHL9 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Phenotypes From GWAS Catalog for KLHL9 Gene

Gene Ontology (GO) - Molecular Function for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 17543862
genes like me logo Genes that share ontologies with KLHL9: view
genes like me logo Genes that share phenotypes with KLHL9: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL9 Gene

Localization for KLHL9 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL9 gene
Compartment Confidence
cytosol 5
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030496 midbody IDA 19995937
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 17543862
genes like me logo Genes that share ontologies with KLHL9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL9 Gene

Pathways & Interactions for KLHL9 Gene

genes like me logo Genes that share pathways with KLHL9: view

Pathways by source for KLHL9 Gene

UniProtKB/Swiss-Prot Q9P2J3-KLHL9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis IMP 17543862
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with KLHL9: view

No data available for SIGNOR curated interactions for KLHL9 Gene

Drugs & Compounds for KLHL9 Gene

No Compound Related Data Available

Transcripts for KLHL9 Gene

mRNA/cDNA for KLHL9 Gene

(2) REFSEQ mRNAs :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL9 Gene

No ASD Table

Relevant External Links for KLHL9 Gene

GeneLoc Exon Structure for
KLHL9
ECgene alternative splicing isoforms for
KLHL9

Expression for KLHL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL9 Gene



Protein tissue co-expression partners for KLHL9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL9 Gene:

KLHL9

SOURCE GeneReport for Unigene cluster for KLHL9 Gene:

Hs.701778

Evidence on tissue expression from TISSUES for KLHL9 Gene

  • Nervous system(4.9)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with KLHL9: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL9 Gene

Orthologs for KLHL9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL9 33 34
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia KLHL9 33 34
  • 94.38 (n)
dog
(Canis familiaris)
Mammalia LOC100688162 33
  • 92.44 (n)
rat
(Rattus norvegicus)
Mammalia Klhl9 33
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Klhl9 33 16 34
  • 91.57 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves KLHL13 33 34
  • 85.75 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl13 33
  • 81.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31679 33
zebrafish
(Danio rerio)
Actinopterygii klhl13 33 34
  • 74.55 (n)
wufc15b07 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6929 33
Species where no ortholog for KLHL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL9 Gene

ENSEMBL:
Gene Tree for KLHL9 (if available)
TreeFam:
Gene Tree for KLHL9 (if available)

Paralogs for KLHL9 Gene

genes like me logo Genes that share paralogs with KLHL9: view

Variants for KLHL9 Gene

Sequence variations from dbSNP and Humsavar for KLHL9 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs869312950 uncertain-significance, Inborn genetic diseases 21,333,897(-) A/T coding_sequence_variant, missense_variant
rs780821611 likely-pathogenic, not provided 21,334,300(-) G/A/C coding_sequence_variant, missense_variant
rs980802126 uncertain-significance, not specified 21,334,417(-) C/G/T coding_sequence_variant, missense_variant
rs1000025937 -- 21,335,189(-) C/G 5_prime_UTR_variant
rs1000413361 -- 21,335,459(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL9 Gene

Variant ID Type Subtype PubMed ID
esv2764150 CNV gain+loss 21179565

Variation tolerance for KLHL9 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 38.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL9 Gene

Human Gene Mutation Database (HGMD)
KLHL9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL9 Gene

Disorders for KLHL9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLHL9 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
klhl9-related early-onset distal myopathy
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search KLHL9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLHL9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KLHL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL9 Gene

Publications for KLHL9 Gene

  1. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PMID: 20574843) Yang XR … Goldstein AM (Familial cancer 2010) 3 44 58
  2. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PMID: 19995937) Maerki S … Peter M (The Journal of cell biology 2009) 3 4 58
  3. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. (PMID: 17543862) Sumara I … Peter M (Developmental cell 2007) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for KLHL9 Gene

Sources for KLHL9 Gene

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